Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908586
rs121908586
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C1868000
Disease:
Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121908587
rs121908587
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C4016331
Disease:
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121908589
rs121908589
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C1868000
Disease:
Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553906053
rs1553906053
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587776793
rs587776793
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587776794
rs587776794
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		GGAGGGA 0.700 CausalMutation CLINVAR
dbSNP: rs587776795
rs587776795
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		G 0.700 CausalMutation CLINVAR
dbSNP: rs606231209
rs606231209
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		C 0.700 CausalMutation CLINVAR
dbSNP: rs779173667
rs779173667
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0278883
Disease:
Metastatic melanoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		T 0.800 CausalMutation CLINVAR We found 2 types of constitutively activated mutations of PDGFR alpha, Val-561 to Asp or Asp-842 to Val, in 5 of 8 GISTs without KIT mutations but not in 10 GISTs with KIT mutations. 12949711 2003
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		T 0.800 CausalMutation CLINVAR Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 14645423 2003
dbSNP: rs121908586
rs121908586
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		A 0.720 CausalMutation CLINVAR Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 14645423 2003
dbSNP: rs1057519700
rs1057519700
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		G 0.710 CausalMutation CLINVAR Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 14645423 2003
dbSNP: rs1057519700
rs1057519700
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		A 0.710 CausalMutation CLINVAR Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 14645423 2003
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		T 0.800 CausalMutation CLINVAR A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. 15146165 2004
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.800 GeneticVariation BEFREE Previously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp842 to Val, in about half of GISTs without c-kit gene mutations. 15221957 2004
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0027651
Disease:
Neoplasms 		0.060 GeneticVariation BEFREE The PDGFRA mutations primarily involved exon 18 (N = 15) and included 11 tumors with missense mutation in codon 842 (PDGFRA D842V or D842Y). 15223958 2004
dbSNP: rs121913265
rs121913265
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE The PDGFRA mutations primarily involved exon 18 (N = 15) and included 11 tumors with missense mutation in codon 842 (PDGFRA D842V or D842Y). 15223958 2004
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.800 GeneticVariation BEFREE PDGFRA exon 18 mutations (total 86 cases) were common in epithelioid GISTs and most commonly represented a D842V point mutation; none of these was prognostically significant. 15613856 2005
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		T 0.800 CausalMutation CLINVAR Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants. 15685537 2005
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0027651
Disease:
Neoplasms 		0.060 GeneticVariation BEFREE One progressive tumor showed acquired PDGFRA -D842V mutation. 15685537 2005
dbSNP: rs121908586
rs121908586
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.720 GeneticVariation BEFREE Molecular study revealed a mutation at the juxtamembrane domain of exon 12 in PDGFRA gene with GTC to GAC transition at codon 561 (V561D), as shown in the previous mutational studies on gastrointestinal stromal tumor (GIST). 15894928 2005
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.800 GeneticVariation BEFREE Including our cases, there are 289 reported PDGFRA-mutant GISTs, of which 181 (62.6%) had the imatinib-resistant substitution D842V. 15928335 2005
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		T 0.800 CausalMutation CLINVAR Including our cases, there are 289 reported PDGFRA-mutant GISTs, of which 181 (62.6%) had the imatinib-resistant substitution D842V. 15928335 2005
dbSNP: rs121908586
rs121908586
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		A 0.720 CausalMutation CLINVAR PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. 15928335 2005